A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570629



Internal ID21518997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54146179..54149508hg38UCSC Ensembl
chr1:54611852..54615181hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383330
hg193330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065425
SamplesHG03371
Known GenesCDCP2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570629
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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